Our paper on the newest version of the Registry of candidate cis-Regulatory Elements (cCREs) is out 🧬 Huge thanks to the many collaborators, experimentalists, analysts and software developers who made this work possible — truly a team effort! A "meme-torial" of the science is coming soon 👀

Surprise visit to @nickywhiffin.bsky.social’s lab! So nice catching up with old friends, meeting new ones, and a reminder that even though Sydney is home, Oxford can still feel like one too :) @ruebenadawes.bsky.social

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

In these dark times, it comes as a rare pleasure to highlight @natanaels.bsky.social ‬ & @marcdemanuel.bsky.social's work on germline and somatic mutations in humans. 1/n www.biorxiv.org/cgi/content/...

Multi-ancestry GWAS can increase power and precision, but how should we analyze them? Pooled or stratified? We answer that question in a paper out today in AJHG, led by Julie Dias and Haoyu Zhang. 1/7 www.cell.com/ajhg/fulltex...

Check out a new preprint led by @alberthenry.bsky.social & Anne Senabouth exploring causal inference across 28 immune cell types in TenK10K!

Check out a new preprint led by @anglixue.bsky.social exploring single-cell chromatin accessibility in TenK10K!

🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇

Amazing talk on thinking about genetic ancestry and discussion of narrow vs broad sampling by @jnovembre.bsky.social at the #OurDNA symposium this morning!

🔥 Huge congrats to @ksusztak.bsky.social & team on a landmark @natgenet.nature.com paper! 🚶‍♂️🐁🐀Cross-species 🫘kidney pathway dysregulation via #singlecell functional profiling of individual samples — opening new therapeutic avenues. 🔗 www.nature.com/articles/s41... 🧪 #NephSky #MedSky

#HGSA2025 week kicks off with the OurDNA symposium tomorrow (with a preview of the OurDNA browser!) Register to attend online here👇

“findings suggest the existence of tens of thousands of enhancers that remain undiscovered by currently available chromatin data” 🧪🧬

Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...

In another milestone for human genetics, the world's largest set of whole-genome DNA sequences now encompasses data from nearly half a million people, described in this new @nature.com paper from @ukbiobank.bsky.social: 🧪👇

Such a wonderful experience at this year’s Leena Peltonen School for Human Genomics @ Wellcome Genome, UK. Thank you to the organizers for putting this together! Caught up with old friends and made so many new friends. Feeling immensely uplifted for the future of human genetics research! #lpshg2025

Leena Peltonen School of Human Genetics in full-swing! @gosiatrynka.bsky.social @dgmacarthur.bsky.social @bpasaniuc.bsky.social @tuuliel.bsky.social @hilarycmartin.bsky.social @sashagusevposts.bsky.social @zkutalik.bsky.social @mashaals.bsky.social @alemedinarivera.bsky.social

🚨New preprint just dropped 🚨 medrxiv.org/content/10.1101/2025.06.24.25330216 The main output from my PhD is finally public and we’re SUPER excited about the findings! If you’re interested in what we learnt about IBD with a massive 700+ sample sc-eQTL dataset of the gut, read on!

Excited to share my first contribution here at Illumina! We developed PromoterAI, a deep neural network that accurately identifies non-coding promoter variants that disrupt gene expression.🧵 (1/)

New preprint in collaboration with @paulinanunezv.bsky.social supervised by @jonnyfrazer.bsky.social and Mafalda Dias – we propose a simple approach to improving zero-shot variant effect prediction in pre-existing protein and genome language models: 🧶 1/n www.biorxiv.org/content/10.1...

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

Joseph Powell welcomes everyone to the start of #ozsinglecell2025!

Looking forward to attending #ozsinglecell2025. I’ll be sharing some findings on tandem repeats #TRs in single cell contexts using TenK10K Phase 1 on Thursday at 11:55.

Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542... 1/n

🧬Oz Single Cell Hackathon 2025🧬Join us at the Garvan Institute 19-21 May before the Oz Single Cell conference! Tackle challenges in scMultiomics integration, viz & predictive modeling. Details 👉 petercallen.github.io/2025-OSC-hac... #OzSingleCell #ozsinglecell25 @ozsinglecell.bsky.social

Are you an experienced Bioinformatician looking to make a real-world impact for families living with rare disease? Love team science and working at scale? Remote-first (NSW, VIC or QLD). Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program: career10.successfactors.com/career?caree...

Reckon we still have a while before ChatGPT replaces genetic counselors

The TenK10K Phase 1 dataset is out! A mammoth effort to generate and analyze paired WGS + scRNA-seq at scale - already yielding exciting insights, with many more to come.

Very excited to announce that the single cell/nuc. RNA/ATAC/multi-ome resource from ENCODE4 is now officially public. This includes raw data, processed data, annotations and pseudobulk products. Covers many human & mouse tissues. 1/ www.encodeproject.org/single-cell/...

I am excited to present STRchive.org v2! A resource for tandem repeats associated with Mendelian disease. We have resigned the website, added new loci, streamlined our data for easier reuse, added more detailed citations, presented population frequency data and more!

Sometimes you just have to persevere through negative reviews. Reviewers, please be kind :) #methodsmatter bit.ly/gs2-scholar

Spent the afternoon listening to @itaiyanai.bsky.social break down developmental constraints in #cancer, connecting AMR principles to cancer drug resistance. Brilliant science aside, it was a masterclass in how to convey complex ideas incredibly clearly. Thanks for the amazing talk in Boston! 🧬

Evo: A genomic language model of prokaryote genomes generates functional cas9 proteins and transposons. @brianhiestand.bsky.social www.science.org/doi/10.1126/...

📢 New preprint alert: Excited to share our deep dive into the role of tandem repeats (TRs) in single-cell gene expression across the immune system, using WGS and scRNA-seq data from 1,790 individuals and over 5 million blood cells! 🧬 🧵👇 #repeats #SingleCell 1/9

Our review article, with Ira Deveson, @hdashnow.bsky.social, @dgmacarthur.bsky.social, on sequencing & characterising short tandem repeats is out in @NatRevGen! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics 🧬go.nature.com/48pWZix